T32I (p.Thr32Ile) variant of SPI1 (Transcription factor PU.1)
T32I (p.Thr32Ile) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- rs1246203109
- gnomAD 11-47355488-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 12.70
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available